GORAB explained

RAB6-interacting golgin also known as N-terminal kinase-like-binding protein 1 (NTKL-BP1) or SCY1-like 1-binding protein 1 (SCYL1-BP1) is a protein that in humans is encoded by the GORAB gene.^[1]

Function

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi apparatus. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis.^[1]

Clinical significance

Mutations in this gene have been associated with geroderma osteodysplastica.^[1]

See also

• Gerodermia osteodysplastica

Further reading

• Yan J, Di Y, Shi H, Rao H, Huo K . Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination . FEBS Letters . 584 . 20 . 4319–24 . October 2010 . 20849854 . 3789512 . 10.1016/j.febslet.2010.09.019 .
• Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S . Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin . Nature Genetics . 40 . 12 . 1410–2 . December 2008 . 18997784 . 3122266 . 10.1038/ng.252 .
• Yan J, Zhang D, Di Y, Shi H, Rao H, Huo K . A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination . FEBS Letters . 584 . 15 . 3275–8 . August 2010 . 20598683 . 3798065 . 10.1016/j.febslet.2010.06.027 .
• Al-Dosari M, Alkuraya FS . A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations . American Journal of Medical Genetics. Part A . 149A . 10 . 2093–8 . October 2009 . 19681135 . 10.1002/ajmg.a.32996 . 24882708 .
• Zhang L, Li J, Wang C, Ma Y, Huo K . A new human gene hNTKL-BP1 interacts with hPirh2 . Biochemical and Biophysical Research Communications . 330 . 1 . 293–7 . April 2005 . 15781263 . 10.1016/j.bbrc.2005.02.156 .
• Kim J, Kim YS, Ko J . CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses . Life Sciences . 86 . 9–10 . 300–8 . February 2010 . 19951712 . 10.1016/j.lfs.2009.11.012 .
• Di Y, Li J, Fang J, Xu Z, He X, Zhang F, Ling J, Li X, Xu D, Li L, Li YY, Huo K . Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL . Journal of Human Genetics . 48 . 6 . 315–21 . 2003 . 12783284 . 10.1007/s10038-003-0031-5 . free .

Notes and References

1. Web site: Entrez Gene: Golgin, RAB6-interacting .